L778P (p.Leu778Pro) variant of ERCC5 (P28715)
L778P (p.Leu778Pro) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
L778P (p.Leu778Pro) variant details
- p.Leu778Pro
- gnomAD rs929424117
- Likely pathogenic
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Xeroderma pigmentosum)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)